Hereditary Cancer: How to Identify Risks and Perform Genetic Screening

Cancer is a multifactorial disease that affects millions of people worldwide. According to the World Health Organization (WHO), in 2022 there were about 20 million new cancer cases globally and approximately 9.7 million deaths associated with the disease (1). 

 

Although cancer has multiple causes, it is important to highlight the hereditary factor and its contribution to the incidence of the condition. Statistics indicate that hereditary cancer may account for about 5% to 10% of all diagnosed cases. Among the most common hereditary forms are breast cancer and colorectal cancer, often related to variants in specific genes (2). 

 

In this article, we present key information about hereditary cancer: the most common types, main differences compared to sporadic cancer, the role of genetic testing for screening and diagnosis, as well as other relevant details. Read on!

 

What is hereditary cancer? 

Hereditary cancer refers to genetic predisposition syndromes in which inherited pathogenic variants in one or more genes significantly increase the risk of developing certain types of cancer, often with early onset and recurrence in multiple family members. 

 

In most cases, transmission follows an autosomal dominant inheritance pattern, meaning that a single altered gene copy is sufficient to increase tumor risk (3,4). 

 

These conditions often involve multiple organ systems and result from germline variants in genes that play important roles in DNA repair or tumor suppression. Clinical suspicion of hereditary cancer predisposition may arise from a thorough analysis of a patient’s personal and family oncological history (3,4). 

 

Sporadic or hereditary cancer: what’s the difference? 

The main difference between sporadic and hereditary cancer lies in the origin of the genetic mutations that lead to tumor development. Sporadic cancer results from variants acquired throughout life, occurring in somatic cells and not transmitted between generations (5,6). 

 

These mutations are usually a consequence of environmental factors, aging, or random biological processes, and there is no recognizable pattern of familial inheritance. In most cases, sporadic cancer occurs in individuals without a significant family history of the disease (5,6). 

 

Hereditary cancer, on the other hand, is caused by inherited germline mutations present in all cells of an individual from birth. These mutations affect high-penetrance genes and confer a significantly increased cancer risk, often with an autosomal dominant transmission pattern (5-7). 

 

Individuals with hereditary cancer tend to present with early-onset disease, multiple primary tumors, a higher incidence of bilateral tumors, and association with other types of neoplasms within the same family (5-8). 

 

What are the most common types of hereditary cancer? 

The most common hereditary cancers are defined by genetic syndromes that substantially increase the risk of certain tumors, often with early onset and a recognizable family pattern. The most common include: 

 

• Hereditary breast and ovarian cancer; 

• Colorectal cancer and Lynch syndrome; 

• Prostate cancer; 

• Pancreatic cancer; 

• Li-Fraumeni syndrome; 

• Familial adenomatous polyposis; 

• Melanoma; 

• Hereditary retinoblastoma. 

 

Hereditary breast and ovarian cancer 

Hereditary breast and ovarian cancer is associated with an increased risk of developing these tumors due to pathogenic genetic variants, especially in the BRCA1 and BRCA2 genes (9). 

 

The inheritance pattern is autosomal dominant and carries a lifetime breast cancer risk estimated between 65% and 74% for women with BRCA1/2 mutations. For ovarian cancer, the risk is estimated at 39% to 46% with BRCA1 mutations and 12% to 20% with BRCA2 mutations (10,11). 

 

In addition to BRCA1 and BRCA2, other genes involved in the homologous recombination pathway may also contribute to hereditary breast and ovarian cancer, albeit with varying penetrance and risk. These include PALB2, CHEK2, ATM, BRIP1, RAD51C and RAD51D (12). 

 

Hereditary colorectal cancer and Lynch syndrome 

Hereditary colorectal cancer includes colon and rectal tumors arising from germline genetic alterations, with Lynch syndrome (LS) being the most frequent among the identified syndromes. 

 

This condition accounts for approximately 3% of all colorectal cancer cases in the general population and may be responsible for up to one-third of cases diagnosed in individuals under 35 years of age (13,14). 

 

LS follows an autosomal dominant inheritance pattern and is caused by germline variants in DNA mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, PMS2, and indirectly, EPCAM (14). 

 

Clinically, Lynch syndrome is characterized by early-onset colorectal cancer, typically between ages 45 and 60, with a higher incidence in the right colon. In addition to colorectal cancer, LS patients face a significantly increased risk of other neoplasms, particularly endometrial cancer (15). 

 

Hereditary prostate cancer 

Hereditary prostate cancer is characterized by inherited germline mutations that increase tumor risk, accounting for about 5% to 15% of cases. These variants occur mainly in DNA repair genes such as BRCA2, BRCA1, ATM, CHEK2, NBN, and HOXB13, as well as genes linked to hereditary syndromes such as HBOC and Lynch syndrome. Men with variants in these genes, especially BRCA2 and HOXB13, are at greater risk of developing aggressive and early-onset disease (16,17). 

 

Identifying these genetic alterations has a direct impact on clinical management, with genetic testing recommended for patients with high-risk disease, regardless of family history. Beyond enabling screening strategies for relatives, this knowledge also guides the use of targeted therapies (17). 

 

Hereditary pancreatic cancer 

Hereditary pancreatic cancer accounts for about 10% of cases and results from germline mutations in susceptibility genes or significant family history, as in familial pancreatic cancer. 

 

Several genetic syndromes are associated with this increased risk, including Peutz-Jeghers (STK11), hereditary pancreatitis (PRSS1, SPINK1), familial atypical multiple mole melanoma (CDKN2A), as well as variants in BRCA1, BRCA2, PALB2, ATM, TP53, and Lynch syndrome genes (18). 

 

Genetic screening is universally recommended for patients with pancreatic ductal adenocarcinoma to identify variants that enable early surveillance in at-risk individuals. Advances in the understanding of hereditary pancreatic cancer have led to more effective prevention, early detection, and personalized treatment strategies (18). 

 

Li-Fraumeni syndrome 

Li-Fraumeni syndrome (LFS) is a rare hereditary condition with autosomal dominant inheritance caused by pathogenic germline variants in the TP53 gene, a key tumor suppressor. This syndrome carries a high lifetime cancer risk, often affecting individuals at very young ages, including during childhood (19,20). 

 

The most common tumors include bone and soft-tissue sarcomas, breast cancer, adrenocortical tumors, central nervous system tumors, and leukemias, in addition to other solid neoplasms such as colorectal, gastric, lung, and pancreatic cancers. Clinical diagnosis of LFS is based on the presence of multiple tumors in the same individual, a suggestive family history, and rare childhood neoplasms. Confirmation is achieved through genetic testing for TP53 variants (19,20). 

 

Familial adenomatous polyposis 

Familial adenomatous polyposis (FAP) is an autosomal dominant genetic syndrome caused by variants in the APC gene, characterized by the development of hundreds to thousands of adenomatous polyps in the colon and rectum, usually beginning in adolescence. Without treatment, there is a very high risk of progression to colorectal cancer. FAP may also involve extracolonic manifestations such as gastric and duodenal polyps (21). 

 

Hereditary melanoma 

Hereditary melanoma accounts for about 10% of cutaneous melanoma cases and is associated with high-penetrance gene variants, particularly CDKN2A, responsible for up to 40% of familial cases. This hereditary form is suspected in families with two or more first-degree relatives affected, early onset (<40 years), multiple primary melanomas, or association with other tumors such as pancreatic cancer. Individuals with mutations face an increased risk of multiple melanomas and, in some cases, other neoplasms (22). 

 

Hereditary retinoblastoma 

Hereditary retinoblastoma is a malignant retinal tumor that primarily affects children and is associated with variants in the RB1 gene, with an autosomal dominant inheritance pattern and high penetrance. About 40% of cases are hereditary, characterized by early onset, bilateral or multifocal tumors, and a higher risk of transmission to offspring. 

 

These patients also have an increased risk of other tumors, such as osteosarcoma and melanoma, especially after radiotherapy. Molecular diagnosis of RB1 is essential to confirm genetic predisposition, guide ophthalmologic surveillance, and recommend complementary testing (23). 

 

Who is more likely to develop hereditary cancer? 

Certain individuals are at greater risk of developing hereditary cancer, especially when specific clinical or family patterns recognized by medical literature are present (10). 

 

Some signs suggest the presence of a hereditary predisposition to cancer, particularly when: 

• There are multiple cases of cancer within the same family, affecting first-degree relatives (parents, siblings, or children), with the same type of tumor or related tumors, such as breast and ovarian cancer, or colon and endometrial cancer; 

• The diagnosis occurred at a young age, generally before age 50; 

• Bilateral tumors (such as breast cancer in both breasts) or multiple primary tumors in the same individual are present; 

• There are typical combinations of cancers associated with hereditary syndromes, such as breast and ovarian cancer. 

All these patterns should raise clinical suspicion and prompt specialized genetic investigation. 

 

When should you seek genetic counseling? 

Genetic testing can confirm the presence of pathogenic variants and guide preventive measures for both patients and family members. The main profiles indicated for genetic evaluation include: 

 

• Patients diagnosed with cancer at a young age, especially before age 50; 

• People with a family history consistent with hereditary patterns; 

• Individuals with rare or multifocal tumors; 

• Those belonging to higher-risk ethnic groups with a high prevalence of variants in BRCA1 and BRCA2; 

• Patients with tumors that present specific molecular characteristics, such as microsatellite instability or DNA repair deficiency, especially in colorectal and endometrial cancer. 

 

What are genetic tests? 

Genetic tests for cancer are laboratory analyses that examine an individual’s DNA for pathogenic variants in genes associated with an increased risk of hereditary neoplasms.

 

These tests are essential for diagnosing cancer predisposition syndromes, enabling the identification of patients at high risk for certain tumors, even before clinical manifestation.

 

In the context of breast, ovarian, prostate, and pancreatic cancer, the evaluation of BRCA1 and BRCA2 genes stands out as a central tool in the investigation of the genetic causes of these neoplasms (24). 

 

What is the BRCA test? 

The BRCA test, also known as BRCA genetic testing, is the specific analysis of the BRCA1 and BRCA2 genes to identify pathogenic variants associated with increased risk of breast, ovarian, and other related cancers.

 

For example, when a result is BRCA2 positive, the patient has a significantly higher risk of developing these diseases, which may justify specific clinical management strategies. Testing can be performed individually (BRCA1/2) or as part of multigene panels, depending on personal and family history (24). 

 

How is the test performed? 

The test can be carried out using blood, saliva, or buccal mucosa cell samples. The technique generally involves DNA sequencing, with the possibility of analyzing gene rearrangements or specific variants.

 

Preparation is simple and does not require fasting or prior measures. However, pre-test genetic counseling is essential, allowing the patient to understand the clinical and familial implications of the results, as well as the limitations of the test (24). 

 

Test results: positive, negative, and VUS 

The interpretation of genetic test results for gene variant screening follows standardized international guidelines (24):

 

• Positive result: Indicates the presence of a pathogenic or likely pathogenic variant in the genes analyzed; 

• Negative result: No pathogenic or likely pathogenic variants are identified in the analyzed genes. This result must be interpreted in the clinical context: if there is a known familial variant and it is not present in the patient, the risk is similar to that of the general population; 

• VUS – Variant of Uncertain Significance: Refers to the identification of a genetic variant whose association with cancer is not yet well established, with no conclusive evidence of pathogenicity.

The performance and interpretation of the BRCA test must always be accompanied by a professional specialized in genetic counseling, ensuring that the results are correctly understood and that clinical decisions are well-founded. 

 

Prevention and screening 

The prevention and screening of hereditary cancer involve an individualized approach based on genetic risk assessment, family history, molecular testing, and adapted surveillance strategies.

 

This approach is essential to identify at-risk individuals early and provide interventions that may reduce cancer incidence or detect the disease at initial stages (25).

 

One of the most common questions is: how can hereditary cancer be prevented? While germline mutations cannot be avoided, preventive measures can reduce the risk of disease progression (25), such as: 

• Lifestyle modifications, including balanced nutrition, regular physical activity, weight control, smoking cessation, and reduced alcohol intake; 

• Regular medical check-ups, particularly for individuals with suggestive family history, to ensure continuous risk assessment and indication of specific tests.

These measures are part of comprehensive care and should be offered even before confirming a hereditary syndrome, especially in families with a suggestive inheritance pattern. 

 

Personalized screening by syndrome 

When pathogenic or likely pathogenic variants are confirmed, screening must be personalized according to the gene and syndrome involved, always under specialized medical guidance.

 

The process should be carried out by multidisciplinary teams including oncologists, geneticists, gynecologists, gastroenterologists, psychologists, and primary care professionals (25).

 

Integration across specialties allows appropriate management of side effects, emotional support, and continuous updates of strategies based on new scientific evidence.

 

Expanding access to population screening and incorporating genetic risk assessment into routine clinical practice, particularly in primary care, is one of the most effective ways to improve early detection of hereditary syndromes and act preventively before cancer arises. 

 

Signs and symptoms: when to investigate? 

Although they vary depending on tumor location and type, certain signs and symptoms should be considered warning indicators for early cancer investigation. 

 

• Breast cancer: The main symptom is a hard, usually painless lump in the breast. Other important signs include skin retraction or thickening, nipple discharge (especially bloody), and enlarged axillary lymph nodes. Breast pain is uncommon in early stages, but any persistent change warrants clinical evaluation and imaging. 

• Colorectal cancer: Early signs include blood in the stool, which may appear months before diagnosis. Other frequent symptoms are persistent abdominal pain, changes in bowel habits (diarrhea, constipation, or alternating), unexplained anemia, and unintentional weight loss. 

• Prostate cancer: In most cases, early-stage prostate cancer is asymptomatic. When symptoms occur, they may include difficulty urinating (weak stream, hesitation), increased urinary frequency (especially at night), and hematuria (blood in urine). In men over 50, persistent urinary symptoms justify further evaluation, especially if family history or screening results suggest risk. 

• Pancreatic cancer: Symptoms usually appear late, making early diagnosis difficult. Key signs include persistent abdominal pain, obstructive jaundice (yellowing of skin and eyes), weight loss, nausea, vomiting, new-onset diabetes, or sudden decompensation. These symptoms in at-risk patients should prompt evaluation with CT or MRI. 

• Melanoma: The most important sign is an atypical pigmented lesion (mole or “spot”) showing asymmetry, irregular borders, color variation, diameter >6 mm, and rapid evolution (ABCDE criteria). Melanomas may occur in both visible and hidden skin areas. Changes in pigmented lesions should always be evaluated by a dermatologist. 

 

In all cases, symptoms such as persistent pain, unexplained bleeding, unintentional weight loss, fatigue, or palpable masses are considered warning signs. Immediate investigation is necessary in the presence of any persistent or progressive symptom, especially when genetic risk factors or relevant family history are present. 

 

The impact of hereditary cancer on families 

A hereditary cancer diagnosis affects not only the patient’s health but also the family context, requiring an approach centered on shared risk. Beyond clinical impacts, there are significant emotional effects such as anxiety, fear, and changes in family dynamics.

 

The way genetic risk is perceived and managed is often interdependent among relatives, especially parents, children, and partners. Open, guided communication can support adaptation, while silence or avoidance tends to hinder acceptance and adherence to medical recommendations (26). 

 

Multidisciplinary follow-up 

The care of people with hereditary cancer should be managed by a multidisciplinary team of oncologists, geneticists, psychologists, and other specialists. 

 

The oncologist and geneticist are responsible for risk assessment, indication and interpretation of genetic tests, and defining personalized approaches, such as intensified screening, risk-reducing surgeries, or specific therapies. 

 

The psychologist plays a central role in providing emotional support for patients and families, helping with adaptation to diagnosis, facilitating family communication, and supporting decision-making in uncertain contexts. 

 

Cascade testing programs, conducted with psychological support and clinical guidance, increase adherence to preventive strategies while maintaining good quality of life and low levels of anxiety and depression among tested relatives. 

 

What genetic tests does SYNLAB offer for hereditary cancer evaluation? 

SYNLAB offers a wide range of genetic tests for detecting variants in genes associated with hereditary cancers, from multigene panels to specific BRCA1 and BRCA2 analyses. Among the main tests are: 

 

• Extended Panel for Hereditary Cancer: Through NGS sequencing, evaluates variants in major genes related to hereditary cancers, such as ACD, AKT1, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CHEK2, CTNNA1, CXCR4, DICER1, DIS3L2, EGLN1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GPC3, GREM1, HNF1A, HNF1B, HOXB13, KIF1B, KIT, KRAS, MAP3K6, MAX, MC1R, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RECQL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SPINK1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XRCC2. 

• Panel for Hereditary Prostate Cancer: Through NGS sequencing, evaluates the genes ATM, BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, MSR1, NBN, PALB2, PMS2, RAD51D, TP53. 

• BRCA+16 Genetic Panel: Detects point variants and small insertions/deletions in 18 genes linked to hereditary gynecological cancer (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53). It also identifies copy number variations (CNVs), large deletions, and duplications in BRCA1, BRCA2, and EPCAM. 

• Panel for Hereditary Colorectal Cancer: NGS sequencing of APC, AXIN2, BMPR1A, BRCA1, BRCA2, EPCAM, GALNT12, (3´SCG5 region) GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, FAN1. 

• Panel for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): NGS sequencing of MLH1, MSH2, MSH6, PMS2. 

• Panel for Hereditary Pancreatic Cancer: NGS sequencing of APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, CFTR, KRAS, MEN1, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, SPINK1, STK11, TP53, TSC1, TSC2, VHL. 

• Panel for Hereditary Breast and Ovarian Cancer: NGS sequencing of ATM, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, FANCC, FANCM, MEN1, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SLX4, STK11, TP53. 

• Panel for Hereditary Melanoma: NGS sequencing of BAP1, BRCA2, CDK4, CDKN2A, MC1R, MITF, POT1, PTEN, RB1, TERT, TP53. 

 

Frequently Asked Questions (FAQ) about hereditary cancer 

Here, we answer the most common questions about hereditary cancer. 

 

Which types of cancer are hereditary? 

The most common include breast and ovarian cancer, colorectal cancer and Lynch syndrome, prostate cancer, pancreatic cancer, Li-Fraumeni syndrome, familial adenomatous polyposis, melanoma, and retinoblastoma. 

 

How do I know if I have a genetic predisposition to cancer? 

Family history with multiple cases, young age at diagnosis, bilateral/multiple tumors, and typical combinations (e.g., breast + ovary) indicate risk. Evaluation begins with counseling and, if indicated, genetic testing. 

 

What is the BRCA test? 

It is a test that analyzes the BRCA1 and BRCA2 genes to identify pathogenic variants associated with increased risk of breast, ovarian, and other cancers. The result guides screening and risk-reduction measures. 

 

What are the first signs of breast cancer? 

A hard, painless lump is the most frequent finding. Other signs include skin retraction, nipple inversion, bloody discharge, and enlarged axillary lymph nodes. Pain is generally not an early symptom. 

 

What are the first signs of colorectal cancer? 

Blood in stool is a common warning sign. Other symptoms include abdominal pain, changes in bowel habits, unexplained anemia, and unintentional weight loss. 

 

What are the first signs of prostate cancer? 

It is usually asymptomatic at the beginning. When present, symptoms include weak urine stream, hesitation, nocturia, frequency increase, and in advanced cases, bone pain and hematuria. 

 

What are the first signs of pancreatic cancer? 

Persistent abdominal pain, jaundice, weight loss, nausea, vomiting, and new-onset diabetes. Since it tends to be silent, at-risk individuals should seek specialized screening. 

 

What are the first signs of melanoma? 

A mole that changes: asymmetry, irregular borders, varied colors, diameter >6 mm, or rapid evolution (ABCDE). Any suspicious lesion should be examined by a dermatologist. 

 

Which tests are used to diagnose cancer? 

It depends on the organ: imaging (mammography, MRI, CT, colonoscopy) to localize; confirmation is histopathological, through biopsy. Genetic tests assess predisposition but do not replace biopsy. 

 

If someone in my family has cancer, does it mean I will too? 

Not necessarily. Most cancers are sporadic. In families with inherited mutations, some relatives may have higher risk; counseling and genetic testing determine the appropriate approach. 

 

Get to Know SYNLAB – A Leader in Medical Diagnostic Services! 

Accurate and up-to-date testing is essential for precise diagnoses and better treatment guidance. SYNLAB is here to help. 

 

We offer diagnostic solutions with rigorous quality control to the companies, patients, and healthcare providers we serve. Present in Brazil for over 10 years, we operate in 36 countries across three continents and are leaders in diagnostic services in Europe. 

 

Contact the SYNLAB team to learn about our available tests. 

 

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