martes, 18 de junio de 2019

Genetics of Breast and Gynecologic Cancers (PDQ®) 3/10 —Health Professional Version - National Cancer Institute

Genetics of Breast and Gynecologic Cancers (PDQ®)—Health Professional Version - National Cancer Institute

National Cancer Institute

Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version



PTEN hamartoma tumor syndromes (including Cowden syndrome)

Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are part of a spectrum of conditions known collectively as PTEN hamartoma tumor syndromes. Approximately 85% of patients diagnosed with Cowden syndrome, and approximately 60% of patients with BRRS have an identifiable PTEN pathogenic variant.[361] In addition, PTEN pathogenic variants have been identified in patients with very diverse clinical phenotypes.[362] The term PTEN hamartoma tumor syndromes refers to any patient with a PTEN pathogenic variant, irrespective of clinical presentation.
PTEN functions as a dual-specificity phosphatase that removes phosphate groups from tyrosine, serine, and threonine. Pathogenic variants of PTEN are diverse, including nonsense, missense, frameshift, and splice-site variants. Approximately 40% of variants are found in exon 5, which encodes the phosphatase core motif, and several recurrent pathogenic variants have been observed.[363] Individuals with variants in the 5’ end or within the phosphatase core of PTEN tend to have more organ systems involved.[364]
Operational criteria for the diagnosis of Cowden syndrome have been published and subsequently updated.[365,366] These included major, minor, and pathognomonic criteria consisting of certain mucocutaneous manifestations and adult-onset dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). An updated set of criteria based on a systematic literature review has been suggested [367] and is currently utilized in the National Comprehensive Cancer Network (NCCN) guidelines.[95] Contrary to previous criteria, the authors concluded that there was insufficient evidence for any features to be classified as pathognomonic. With increased utilization of genetic testing, especially the use of multigene panels, clinical criteria for Cowden syndrome will need to be reconciled with the phenotype of individuals with documented germline PTENpathogenic variants who do not meet these criteria. Until then, whether Cowden syndrome and the other PTEN hamartoma tumor syndromes will be defined clinically or based on the results of genetic testing remains ambiguous. The American College of Medical Genetics and Genomics (ACMG) suggests that referral for genetics consultation be considered for individuals with a personal history of or a first-degree relative with 1) adult-onset Lhermitte-Duclos disease or 2) any three of the major or minor criteria that have been established for the diagnosis of Cowden syndrome.[97] Detailed recommendations, including diagnostic criteria for Cowden syndrome, can be found in the NCCN and ACMG guidelines.[95,97] Additionally, a predictive model that uses clinical criteria to estimate the probability of a PTEN pathogenic variant is available; a cost-effectiveness analysis suggests that germline PTEN testing is cost effective if the probability of a variant is greater than 10%.[368]
Over a 10-year period, the International Cowden Consortium (ICC) prospectively recruited a consecutive series of adult and pediatric patients meeting relaxed ICC criteria for PTENtesting in the United States, Europe, and Asia.[369] Most individuals did not meet the clinical criteria for a diagnosis of Cowden syndrome or BRRS. Of the 3,399 individuals recruited and tested, 295 probands (8.8%) and an additional 73 family members were found to harbor germline PTEN pathogenic variants. In addition to breast, thyroid, and endometrial cancers, the authors concluded that on the basis of cancer risk, melanoma, kidney cancer, and colorectal cancers should be considered part of the cancer spectra arising from germline PTEN pathogenic variants. A second study of approximately 100 patients with a germline PTEN pathogenic variant confirmed these findings and suggested a cumulative cancer risk of 85% by age 70 years.[370]
Although PTEN pathogenic variants, which are estimated to occur in 1 in 200,000 individuals,[365] account for a small fraction of hereditary breast cancer, the characterization of PTEN function will provide valuable insights into the signal pathway and the maintenance of normal cell physiology.[365,371] Lifetime breast cancer risk is estimated to be between 25% and 50% among women with Cowden syndrome.[372] Other studies have reported risks as high as 85%;[369,370,373,374] however, there are concerns regarding selection bias in these studies. As in other forms of hereditary breast cancer, onset is often at a young age and may be bilateral.[375] Lifetime risk of endometrial cancer is estimated to be between 19% and 28%, depending on the cohort studied, with an increased risk of premenopausal onset.[369,370,376] Because of the low prevalence of PTEN pathogenic variants in the population, the proportion of endometrial cancer attributable to Cowden syndrome is small. There are no data that link PTEN pathogenic variants to an increased risk of ovarian cancer. Skin manifestations include multiple trichilemmomas, oral fibromas and papillomas, and acral, palmar, and plantar keratoses. History or observation of the characteristic skin features raises a suspicion of Cowden syndrome. CNS manifestations include macrocephaly, developmental delay, and dysplastic gangliocytomas of the cerebellum.[377,378] (Refer to the PDQ summaries on Genetics of Colorectal Cancer and Genetics of Skin Cancer for more information about PTENhamartoma tumor syndromes [including Cowden syndrome].)

Diffuse gastric and lobular breast cancer syndrome

The E-cadherin gene CDH1 was first described in 1998 in three Maori families with multiple cases of diffuse gastric cancer (DGC), leading to the designation of hereditary diffuse gastric cancer (HDGC). There have been multiple subsequent reports of an excess of lobular breast cancer in HDGC families.[379] CDH1 is located on chromosome 16q22.1 and encodes the E-cadherin protein, a calcium-dependent homophilic adhesion molecule that plays a key role in cellular adhesion, cell polarity, cell signaling, and maintenance of cellular differentiation and tissue morphology.[380] E-cadherin binds to various catenins to stabilize the cytoplasmic cell adhesion complex and to maintain the E-cadherin interaction with actin filament.[381] Loss of CDH1 can occur as a result of somatic variants, LOH, or hypermethylation, and can result in dedifferentiation and invasiveness in human cancers.[382,383] Classic histopathologic findings in gastrectomy specimens include in situ signet ring cells and/or pagetoid spread of signet ring cells. Of all gastric cancers, 1% to 3% are attributed to inherited gastric cancer syndromes.[384]
HDGC is an autosomal dominant syndrome associated with poorly differentiated invasive adenocarcinoma of the stomach presenting as linitis plastica. It is a highly penetrant and highly fatal syndrome, with a risk of clinical DGC ranging from 40% to 83%.[379] The risk of lobular breast cancer, which is characterized by small uniform cells that tend to invade in “single files,” is also increased in HDGC. Although invasive lobular breast cancer represents only 10% to 15% of all breast cancers, the lifetime risk of lobular breast cancer in carriers of CDH1 pathogenic variants ranges from 30% to 50%.[381,382] Guidelines for screening for CDH1 vary but include multiple cases of DGC in a family, early age of DGC, or lobular breast cancer in a family with DGC. Approximately 25% of families meeting these criteria are found to have a pathogenic variant in CDH1.[384] CDH1 pathogenic variants have been found in some families with lobular breast cancer but no gastric cancer.[385] The management of individuals with CDH1 pathogenic variants without a family history of gastric cancer is unclear.[385]

Peutz-Jeghers syndrome (PJS)

PJS is an early-onset autosomal dominant disorder characterized by melanocytic macules on the lips, the perioral region, and buccal region; and multiple gastrointestinal polyps, both hamartomatous and adenomatous.[386-388] Germline pathogenic variants in the STK11 gene at chromosome 19p13.3 have been identified in the vast majority of PJS families.[389-393] The most common cancers in PJS are gastrointestinal. However, other organs are at increased risk of developing malignancies. For example, the cumulative risks have been estimated to be 32% to 54% for breast cancer [394-396] and 21% for ovarian cancer.[394] A systematic review found a lifetime cumulative cancer risk, all sites combined, of up to 93% in patients with PJS.[397] Table 9 shows the cumulative risk of these tumors.
Females with PJS are also predisposed to the development of cervical adenoma malignum, a rare and very aggressive adenocarcinoma of the cervix.[398] In addition, females with PJS commonly develop benign ovarian sex-cord tumors with annular tubules, whereas males with PJS are predisposed to development of Sertoli-cell testicular tumors;[399] although neither of these two tumor types is malignant, they can cause symptoms related to increased estrogen production.
Although the risk of malignancy appears to be exceedingly high in individuals with PJS based on the published literature, the possibility that selection and referral biases have resulted in overestimates of these risks should be considered.
Table 9. Cumulative Cancer Risks in Peutz-Jeghers Syndrome Up To Specified Agea
SiteAge (y)Cumulative Risk (%)bReference(s)
GI = gastrointestinal.
aReprinted with permission from Macmillan Publishers Ltd: Gastroenterology [397], copyright 2010.
bAll cumulative risks were increased compared with the general population (P < .05), with the exception of cervix and testes.
cGI cancers include colorectal, small intestinal, gastric, esophageal, and pancreatic.
dWesterman et al.: GI cancer does not include pancreatic cancer.[400]
eDid not include adenoma malignum of the cervix or Sertoli cell tumors of the testes.
Any cancer60–7037–93[393-396,400,401]
GI cancerc,d60–7038–66[395,396,400,401]
Gynecological cancer60–7013–18[395,396]
Per origin
Stomach6529[394]
Small bowel6513[394]
Colorectum6539[394,395]
Pancreas65–7011–36[394,395]
Lung65–707–17[394-396]
Breast60–7032–54[394-396]
Uterus659[394]
Ovary6521[394]
Cervixe6510[394]
Testese659[394]
Peutz-Jeghers gene(s)
PJS is caused by pathogenic variants in the STK11 (also called LKB1) tumor suppressor gene located on chromosome 19p13.[390,391] Unlike the adenomas seen in familial adenomatous polyposis, the polyps arising in PJS are hamartomas. Studies of the hamartomatous polyps and cancers of PJS show allelic imbalance (LOH) consistent with the two-hit hypothesis, demonstrating that STK11 is a tumor suppressor gene.[402,403] However, heterozygous STK11 knockout mice develop hamartomas without inactivation of the remaining wild-type allele, suggesting that haploinsufficiency is sufficient for initial tumor development in PJS.[404] Subsequently, the cancers that develop in STK11 +/- mice do show LOH;[405] indeed, compound mutant mice heterozygous for pathogenic variants in STK11 +/- and homozygous for pathogenic variants in TP53 -/- have accelerated development of both hamartomas and cancers.[406]
Germline variants of the STK11 gene represent a spectrum of nonsense, frameshift, and missense variants, and splice-site variants and large deletions.[389,395] Approximately 85% of variants are localized to regions of the kinase domain of the expressed protein, and no germline variants have been reported in exon 9. No strong genotype-phenotype correlations have been identified.[395]
STK11 has been unequivocally demonstrated to cause PJS. Although earlier estimates using direct DNA sequencing showed a 50% pathogenic variant detection rate in STK11, studies adding techniques to detect large deletions have found pathogenic variants in up to 94% of individuals meeting clinical criteria for PJS.[389,397,407] Given the results of these studies, it is unlikely that other major genes cause PJS.
Clinical management
The high cumulative risk of cancers in PJS has led to the various screening recommendations summarized in the table of Published Recommendations for Diagnosis and Surveillance of Peutz-Jeghers Syndrome (PJS) in the PDQ summary on Genetics of Colorectal Cancer.

PALB2

PALB2 (partner and localizer of BRCA2) interacts with the BRCA2 protein and plays a role in homologous recombination and double-stranded DNA repair. Similar to BRIP1 and BRCA2, biallelic pathogenic variants in PALB2 have also been shown to cause Fanconi anemia.[408]
PALB2 pathogenic variants have been screened for in multiple small studies of familial and early-onset breast cancer in multiple populations.[14,409-426] Pathogenic variant prevalence has ranged from 0.4% to 3.9%. Similar to BRIP1 and CHEK2, there was incomplete segregation of PALB2 pathogenic variants in families with hereditary breast cancer.[409] Among 559 cases with CBC and 565 matched controls with unilateral breast cancer, pathogenic (truncating) PALB2 pathogenic variants were identified in 0.9% of cases and in none of the controls (RR, 5.3; 95% CI, 1.8–13.2).[420]
Data based on 154 families with loss-of-function PALB2 variants suggest that this gene may be an important cause of hereditary breast cancer, with risks that overlap with BRCA2.[427] In this study, analysis of 362 family members from 154 families with PALB2 pathogenic variants indicated that the absolute risk of female breast cancer by age 70 years ranged from 33% (95% CI, 24%–44%) for those with no family history of breast cancer to 58% (95% CI, 50%–66%) for those with two or more FDRs with early-onset breast cancer. Furthermore, among 63 breast cancer cases in which HER2 status was known, 30% had triple-negative disease. An earlier Finnish study reported on a PALB2 founder pathogenic variant (c.1592delT) that confers a 40% risk of breast cancer to age 70 years [410] and is associated with a high incidence (54%) of triple-negative disease and lower survival.[411] Pathogenic variants have been observed in early-onset and familial breast cancer in many populations.[412,413] A large report of 1,824 patients with triple-negative breast cancer unselected for family history, recruited through 12 studies, identified 1.2% with a PALB2pathogenic variant.[244] (Refer to the BRCA1 pathology section of this summary for more information about this study.)
In a later Polish study of more than 12,529 unselected women with breast cancer and 4,702 controls, PALB2 pathogenic variants were detected in 116 cases (0.93%; 95% CI, 0.76%–1.09%) and 10 controls (0.21%; 95% CI, 0.08%–0.34%), with an OR for breast cancer of 4.39 (95% CI, 2.30–8.37).[428] The study findings confirm a substantially elevated risk of breast cancer (24%–40%) among women with a PALB2 pathogenic variant up to age 75 years. The 5-year cumulative incidence of CBC was 10% among those with a PALB2 pathogenic variant, compared with 17% among those with a BRCA1 pathogenic variant and 3% among those without a variant in either gene. Furthermore, the 10-year survival for women with a PALB2pathogenic variant and breast cancer was 48% (95% CI, 36.5%–63.2%), compared with 72.0% among those with a BRCA1 pathogenic variant and 74.7% among those without a variant in either gene. Among PALB2 carriers, breast tumors 2 cm or larger had substantially worse outcomes (32.4% 10-year survival), compared with tumors smaller than 2 cm (82.4% 10-year survival). Approximately one-third of those with a PALB2 pathogenic variant had triple-negative breast cancer, and the average age at breast cancer diagnosis was 53.3 years.
Male breast cancer has been observed in PALB2 pathogenic variant–positive breast cancer families.[14,414,427] In a study of 115 male breast cancer cases in which 18 men had BRCA2pathogenic variants, an additional two men had either a pathogenic or predicted pathogenic PALB2 variant (accounting for about 10% of germline variants in the study and 1%–2% of the total sample).[14] The RR of breast cancer for male carriers of PALB2pathogenic variants compared with that seen in the general population was estimated to be 8.30 (95% CI, 0.77–88.56; P = .08) in the study of 154 families.[427]
After the identification of PALB2 pathogenic variants in pancreatic tumors and the detection of germline pathogenic variants in 3% of 96 familial pancreatic patients,[429] numerous studies have pointed to a role for PALB2 in pancreatic cancer. PALB2 pathogenic variants were detected in 3.7% of 81 familial pancreatic cancer families [430] and in 2.1% of 94 BRCA1/BRCA2 pathogenic variant–negative breast cancer patients who had either a personal or family history of pancreatic cancer.[431] Two relatively small studies—one of 77 BRCA1/BRCA2 pathogenic variant–negative probands with a personal or family history of pancreatic cancer, one-half of whom were of AJ descent, and another study of 29 Italian pancreatic cancer patients with a personal or family history of breast or ovarian cancer—failed to detect any PALB2 pathogenic variants.[432,433] A sixfold increase in pancreatic cancer was observed in the relatives of 33 BRCA1/BRCA2-negative, PALB2 pathogenic variant–positive breast cancer probands.[414]
Overall, the observed prevalence of PALB2 pathogenic variants in familial breast cancer varied depending on ascertainment relative to personal and family history of pancreatic and ovarian cancers, but in all studies, the observed pathogenic variant rate was lower than 4%. Data suggest that the RR of breast cancer may overlap with that of BRCA2, particularly in those with a strong family history; thus, it remains important to refine cancer risk estimates in larger studies. Furthermore, the risk of other cancers (e.g., pancreatic) is poorly defined. Given the low PALB2 pathogenic variant prevalence in the population, additional data are needed to define best candidates for testing and appropriate management.

De Novo Pathogenic Variant Rate

Until the 1990s, the diagnosis of genetically inherited breast and ovarian cancer syndromes was based on clinical manifestations and family history. Now that some of the genes involved in these syndromes have been identified, a few studies have attempted to estimate the spontaneous pathogenic variant rate (de novo pathogenic variant rate) in these populations. Interestingly, PJS, PTEN hamartoma syndromes, and LFS are all thought to have high rates of spontaneous pathogenic variants, in the 10% to 30% range,[434-437] while estimates of de novo pathogenic variants in the BRCA genes are thought to be low, primarily on the basis of the few case reports published.[438-446] Additionally, there has been only one case series of breast cancer patients who were tested for BRCA pathogenic variants in which a de novo variant was identified. Specifically, in this study of 193 patients with sporadic breast cancer, 17 pathogenic variants were detected, one of which was confirmed to be a de novo pathogenic variant.[438] As such, the de novo pathogenic variant rate appears to be low and fall into the 5% or less range, based on the limited studies performed.[438-446] Similarly, estimates of de novo pathogenic variants in the MMR genes associated with Lynch syndrome are thought to be low, in the 0.9% to 5% range.[447-449] However, these estimates of spontaneous pathogenic variant rates in the BRCA genes and Lynch syndrome genes seem to overlap with the estimates of nonpaternity rates in various populations (0.6%–3.3%),[450-452] making the de novo pathogenic variant rate for these genes relatively low.

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